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lissencephaly 3 - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:lissencephaly 3
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Accession:DOID:0112232 term browser browse the term
Definition:A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12. (DO)
Synonyms:exact_synonym: LIS3;   LISSENCEPHALY DUE TO TUBA1A MUTATION;   LISSENCEPHALY TYPE 3;   TUBA1A-ASSOCIATED TUBULINOPATHY;   TUBA1A-RELATED CONDITION;   TUBULINOPATHY-ASSOCIATED DYSGYRIA
 broad_synonym: TUBULINOPATHIES;   TUBULINOPATHY
 primary_id: MESH:C566908
 alt_id: DOID:9000102;   MIM:611603
 xref: NCI:C148461;   ORDO:171680

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lissencephaly 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 ISO ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation ClinVar PMID:10873396 PMID:22412862 PMID:25741868 PMID:28492532 NCBI chr 5:30,824,571...30,835,025
Ensembl chr 5:30,824,683...30,834,128 		JBrowse link
G LOC610636 tubulin alpha-1B chain ISO ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation | ClinVar Annotator: match by term: Lissencephaly type 3 | ClinVar Annotator: match by term: TUBA1A-associated tubulinopathy | ClinVar Annotator: match by term: TUBA1A-related condition | ClinVar Annotator: match by term: Tubulinopathies | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria OMIM
ClinVar		 PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18669490 More... NCBI chr37:25,811,491...25,818,838 JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation ClinVar PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 More... NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15755
    physical disorder 5129
      congenital nervous system abnormality 1533
        lissencephaly 130
          lissencephaly 3 3
            Lissencephaly Type III and Bone Dysplasia 0
Path 2
Term Annotations click to browse term
  disease 15755
    Developmental Disease 13760
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12837
        genetic disease 12534
          monogenic disease 10710
            autosomal genetic disease 10247
              autosomal dominant disease 6669
                complex cortical dysplasia with other brain malformations 1642
                  Malformations of Cortical Development, Group I 1395
                    microcephaly 1143
                      lissencephaly 3 3
                        Lissencephaly Type III and Bone Dysplasia 0
paths to the root